about
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesGlycosylation defects: a new mechanism for muscular dystrophy?Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.Primary myopathies and the heart.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.New developments in exon skipping and splice modulation therapies for neuromuscular diseases.RNAMotif, an RNA secondary structure definition and search algorithmPeripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
The Fukuyama congenital muscular dystrophy story
@ast
The Fukuyama congenital muscular dystrophy story
@en
The Fukuyama congenital muscular dystrophy story
@nl
type
label
The Fukuyama congenital muscular dystrophy story
@ast
The Fukuyama congenital muscular dystrophy story
@en
The Fukuyama congenital muscular dystrophy story
@nl
prefLabel
The Fukuyama congenital muscular dystrophy story
@ast
The Fukuyama congenital muscular dystrophy story
@en
The Fukuyama congenital muscular dystrophy story
@nl
P2093
P3181
P1476
The Fukuyama congenital muscular dystrophy story
@en
P2093
P3181
P356
10.1016/S0960-8966(99)00109-1
P407
P577
2000-03-01T00:00:00Z